Associated Papers
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.
Lepage M et al.
Genes, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
CDH1 germline mutations in families with hereditary lobular breast cancer.
Girardi A et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2022
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
CDH1 Gene Mutation Hereditary Diffuse Gastric Cancer Outcomes: Analysis of a Large Cohort, Systematic Review of Endoscopic Surveillance, and Secondary Cancer Risk Postulation.
Benesch MGK et al.
Cancers, 2021
Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
Massari G et al.
Cancers, 2021
Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.
Corso G et al.
Cancers, 2021
Malignant tumours of the uterus and ovaries with Mullerian and germ cell or trophoblastic components have a somatic origin and are characterised by genomic instability.
Acosta AM et al.
Histopathology, 2020
First report of a Mexican family with mutation in the CDH1 gene.
Martínez Valenzuela C et al.
Molecular Genetics & Genomic Medicine, 2020
Overview on new progress of hereditary diffuse gastric cancer with CDH1 variants.
Hu MN et al.
Tumori, 2020
Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.
Ji K et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
Aronson M et al.
Current Oncology (toronto, Ont.), 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
Roberts ME et al.
Jama Oncology, 2019
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
Lo W et al.
Journal of Medical Genetics, 2019
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Figueiredo J et al.
Journal of Medical Genetics, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
Krempely K et al.
Cold Spring Harbor Molecular Case Studies, 2018
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
Corso G et al.
Journal of Medical Genetics, 2018
Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk.
Li D et al.
Clinical and Translational Medicine, 2018
Germline mutations in hereditary diffuse gastric cancer.
Zhang H et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2018
CDH1 germline mutations and hereditary lobular breast cancer.
Corso G et al.
Familial Cancer, 2016
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
McVeigh TP et al.
Clinical Breast Cancer, 2014
Germline CDH1 mutations in bilateral lobular carcinoma in situ.
Petridis C et al.
British Journal of Cancer, 2014
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
Benusiglio PR et al.
Journal of Medical Genetics, 2013
De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.
Shah MA et al.
Clinical Genetics, 2012
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.
Corso G et al.
Bmc Cancer, 2012
A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer.
Chen Y et al.
Annals of Surgical Oncology, 2011
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
Guilford P et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010
Hereditary diffuse gastric cancer.
Schrader K et al.
Cancer Treatment and Research, 2010
Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients.
Hebbard PC et al.
Annals of Surgical Oncology, 2009
Breast cancer susceptibility: current knowledge and implications for genetic counselling.
Ripperger T et al.
European Journal of Human Genetics : Ejhg, 2009
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.
Oliveira C et al.
Gastroenterology, 2009
The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers.
Karam R et al.
Oncogene, 2008
Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy.
Lynch HT et al.
Cancer, 2008
Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.
Rogers WM et al.
The American Journal of Surgical Pathology, 2008
No mucosal escape of signet-ring cell carcinoma for ten years in a patient with familial aggregation of gastric cancer.
Tanis PJ et al.
Journal of Surgical Oncology, 2008
Hereditary diffuse gastric cancer: association with lobular breast cancer.
Schrader KA et al.
Familial Cancer, 2008
A short guide to hereditary diffuse gastric cancer.
Guilford P et al.
Hereditary Cancer in Clinical Practice, 2007
Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays.
Mullins FM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Genetic mutations identified for hereditary diffuse gastric cancer.
Peek R et al.
Gastroenterology, 2007
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
Kaurah P et al.
Jama, 2007